view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HNRNPF_chr10_43380618_43414186 | 43409314 | G | GGGAGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01261.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0186 a0001c0001t0004g0187 others(4): Show |
12 | 362 | 0.0331 | 9 | c.-43 others(18): Show |
HNRNPF | ENSG00000169813.17 | transcript | ENST00000682386.1 | protein_coding | 129 | chr10 | TogoVar | |||||||
HNRNPLL_chr2_38556969_38607928 | 38588546 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01168.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(4): Show | a0001c0001t0002g0032 a0001c0001t0002g0071 a0001c0001t0002g0235 others(12): Show |
23 | 168 | 0.1369 | 9 | c.309 others(26): Show |
HNRNPLL | ENSG00000143889.16 | transcript | ENST00000449105.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
HNRNPR_chr1_23299688_23349284 | 23321163 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(195): Show |
219 | 249 | 0.8795 | 9 | c.811 others(24): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
HNRNPR_chr1_23299688_23349284 | 23331834 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0032 | a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0095 others(4): Show |
7 | 21 | 0.3333 | 9 | c.498 others(26): Show |
HNRNPR | ENSG00000125944.22 | transcript | ENST00000302271.11 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
HNRNPUL1_chr19_41259372_41312787 | 41260298 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0032 others(7): Show |
10 | 54 | 0.1852 | 9 | c.-42 others(20): Show |
HNRNPUL1 | ENSG00000105323.18 | transcript | ENST00000392006.8 | protein_coding | 4073 | chr19 | TogoVar | |||||||
HOGA1_chr10_97579389_97617802 | 97593029 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0002g0226 a0001c0001t0002g0298 a0001c0001t0003g0295 others(5): Show |
8 | 307 | 0.0261 | 9 | c.212 others(26): Show |
HOGA1 | ENSG00000241935.9 | transcript | ENST00000370646.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79378221 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0162 a0001c0001t0001g0266 a0001c0001t0001g0270 others(6): Show |
9 | 195 | 0.0462 | 9 | c.877 others(26): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79409084 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0207 a0001c0001t0003g0058 a0001c0001t0006g0006 others(6): Show |
9 | 71 | 0.1268 | 9 | c.528 others(26): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82860949 | T | TGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0129 a0001c0001t0001g0194 others(3): Show |
6 | 196 | 0.0306 | 9 | c.388 others(26): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82868542 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0002 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(7): Show |
10 | 300 | 0.0333 | 9 | c.295 others(26): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280704 | T | TTTTATTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02132.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0126 a0001c0003t0001g0004 a0001c0003t0001g0127 |
11 | 368 | 0.0299 | 9 | c.41- others(24): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp2 HG02970.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0013 | a0001c0003t0002a0003c0013t0017a0003c0013t0018 | a0001c0003t0002g0076 a0003c0013t0017g0245 a0003c0013t0018g0041 |
4 | 210 | 0.0190 | 9 | c.41- others(24): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23287516 | T | TTAATAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00673.hp2 others(67): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0002c0001others(10): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(16): Show | a0001c0002t0002g0001 a0001c0002t0002g0137 a0001c0003t0001g0004 others(39): Show |
70 | 204 | 0.3431 | 9 | c.-15 others(20): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1385 | chr14 | TogoVar | |||||||
HOOK3_chr8_42891978_43035535 | 42896748 | A | AGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0074a0001c0001t0075 | a0001c0001t0074g0160 a0001c0001t0075g0159 |
2 | 130 | 0.0154 | 9 | c.-38 others(18): Show |
HOOK3 | ENSG00000168172.9 | transcript | ENST00000307602.9 | protein_coding | 229 | chr8 | TogoVar | |||||||
HOPX_chr4_56642998_56686296 | 56685961 | A | ATATATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(80): Show |
121 | 345 | 0.3507 | 9 | c.-47 others(20): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 4666 | chr4 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30078607 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0265 a0001c0001t0001g0274 others(5): Show |
8 | 91 | 0.0879 | 9 | c.-19 others(20): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 1856 | chr22 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30125216 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0101 others(5): Show |
8 | 120 | 0.0667 | 9 | c.819 others(26): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXA13_chr7_27189364_27205091 | 27202822 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0005g0005 others(5): Show |
12 | 105 | 0.1143 | 9 | c.-27 others(20): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2732 | chr7 | TogoVar | |||||||
HOXB1_chr17_48523526_48536011 | 48528163 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02080.hp1 HG02738.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 169 | 0.0651 | 9 | c.*13 others(20): Show |
HOXB1 | ENSG00000120094.9 | transcript | ENST00000239174.7 | protein_coding | 362 | chr17 | TogoVar | |||||||
HOXB1_chr17_48523526_48536011 | 48530822 | G | GGGGCGCT others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(5): Show | a0002c0002t0001g0017 a0002c0002t0002g0002 a0002c0002t0002g0018 others(6): Show |
47 | 424 | 0.1108 | 9 | c.74_ others(14): Show |
p.His others(11): Show |
HOXB1 | ENSG00000120094.9 | transcript | ENST00000239174.7 | protein_coding | 1/2 | 189/2034 | 82/906 | 28/301 | chr17 | TogoVar | |||
HOXB2_chr17_48537655_48550109 | 48538808 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0024 |
30 | 54 | 0.5556 | 9 | c.*42 others(20): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 3846 | chr17 | TogoVar | |||||||
HOXB5_chr17_48586257_48598779 | 48595787 | G | GTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0002 | a0001c0001t0002g0003 a0001c0001t0006g0011 a0001c0003t0002g0007 |
6 | 331 | 0.0181 | 9 | c.-21 others(20): Show |
HOXB5 | ENSG00000120075.6 | transcript | ENST00000239151.6 | protein_coding | 2009 | chr17 | TogoVar | |||||||
HOXB5_chr17_48586257_48598779 | 48595804 | T | TATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG02074.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0009 a0001c0001t0002g0003 a0001c0003t0002g0007 |
5 | 354 | 0.0141 | 9 | c.-21 others(20): Show |
HOXB5 | ENSG00000120075.6 | transcript | ENST00000239151.6 | protein_coding | 2026 | chr17 | TogoVar | |||||||
HOXB6_chr17_48590751_48609986 | 48595787 | G | GTTATTAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0020 | a0001c0001t0010g0022 a0001c0001t0011g0023 a0001c0001t0020g0078 |
6 | 313 | 0.0192 | 9 | c.*61 others(18): Show |
HOXB6 | ENSG00000108511.10 | transcript | ENST00000225648.4 | protein_coding | 4/4 | 625 | chr17 | TogoVar | ||||||
HOXB6_chr17_48590751_48609986 | 48595804 | T | TATTATTA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG02074.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0016 | a0001c0001t0002g0046 a0001c0001t0009g0018 a0001c0001t0016g0065 |
5 | 332 | 0.0151 | 9 | c.*60 others(18): Show |
HOXB6 | ENSG00000108511.10 | transcript | ENST00000225648.4 | protein_coding | 4/4 | 608 | chr17 | TogoVar | ||||||
HOXC11_chr12_53968126_53982643 | 53976127 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0016a0001c0001t0048a0001c0001t0051others(1): Show | a0001c0001t0016g0001 a0001c0001t0048g0001 a0001c0001t0051g0001 others(1): Show |
6 | 205 | 0.0293 | 9 | c.*72 others(18): Show |
HOXC11 | ENSG00000123388.4 | transcript | ENST00000546378.1 | protein_coding | 2/2 | 731 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HOXD10_chr2_176111778_176124937 | 176111826 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02074.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0008 a0001c0001t0003g0003 a0001c0001t0003g0004 others(1): Show |
6 | 143 | 0.0420 | 9 | c.-50 others(20): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 4951 | chr2 | TogoVar | |||||||
HOXD11_chr2_176102280_176114754 | 176111826 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02074.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 others(1): Show |
6 | 143 | 0.0420 | 9 | c.*26 others(20): Show |
HOXD11 | ENSG00000128713.14 | transcript | ENST00000249504.7 | protein_coding | 2073 | chr2 | TogoVar | |||||||
HOXD8_chr2_176124705_176137695 | 176127763 | A | ACACACAC others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00642.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0002t0003g0001 |
7 | 158 | 0.0443 | 9 | c.-26 others(20): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1941 | chr2 | TogoVar | |||||||
HOXD9_chr2_176117719_176129937 | 176127763 | A | ACACACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00642.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0003t0001g0002 a0002c0002t0001g0001 |
7 | 166 | 0.0422 | 9 | c.*35 others(20): Show |
HOXD9 | ENSG00000128709.13 | transcript | ENST00000249499.8 | protein_coding | 2827 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399233 | C | CGCTGCCG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00673.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0061 a0001c0001t0001g0063 others(38): Show |
41 | 311 | 0.1318 | 9 | c.-25 others(26): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340309 | C | CTTTCTCT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04115.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0035 a0001c0001t0002g0162 a0001c0001t0002g0179 others(1): Show |
4 | 212 | 0.0189 | 9 | c.-10 others(26): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01123.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0209 others(13): Show |
22 | 27 | 0.8148 | 9 | c.422 others(26): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35036732 | C | CTATTATT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0279 others(4): Show |
9 | 264 | 0.0341 | 9 | c.-51 others(20): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 4988 | chr19 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35048028 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0009 a0001c0001t0001g0135 a0001c0001t0001g0151 others(6): Show |
14 | 201 | 0.0697 | 9 | c.17- others(24): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35048028 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00673.hp2 others(29): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0031 others(23): Show |
32 | 219 | 0.1461 | 9 | c.17- others(24): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | chr19 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98552293 | G | GATCATCA others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0102 a0001c0001t0014g0136 |
2 | 83 | 0.0241 | 9 | c.132 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98580357 | C | CTGTTCTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 others(73): Show |
76 | 142 | 0.5352 | 9 | c.132 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98726630 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18954.hp1 NA18966.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0062 others(2): Show |
5 | 43 | 0.1163 | 9 | c.785 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98887920 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02572.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0138 a0002c0002t0002g0029 |
2 | 15 | 0.1333 | 9 | c.611 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99181397 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01928.hp1 HG01981.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(6): Show |
9 | 18 | 0.5000 | 9 | c.449 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83300814 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0002g0046 a0001c0001t0002g0110 a0001c0001t0002g0301 others(4): Show |
7 | 241 | 0.0290 | 9 | c.147 others(26): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49154632 | T | TTCCTCCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp1 HG02630.hp1 HG02723.hp1 others(8): Show |
a0009a0018a0036 | a0009c0009a0018c0025a0036c0029 | a0009c0009t0001a0018c0025t0001a0036c0029t0001 | a0009c0009t0001g0009 a0018c0025t0001g0036 a0036c0029t0001g0043 |
11 | 292 | 0.0377 | 9 | c.597 others(16): Show |
p.Glu others(13): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 764/2357 | 605/2100 | 202/699 | chr19 | TogoVar | |||
HRH1_chr3_11149493_11268557 | 11172704 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 others(52): Show |
55 | 244 | 0.2254 | 9 | c.-36 others(28): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH4_chr18_24455637_24484961 | 24460381 | C | CAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0003 a0001c0001t0004g0034 a0001c0001t0004g0074 others(7): Show |
14 | 172 | 0.0814 | 9 | c.-34 others(18): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 255 | chr18 | TogoVar | |||||||
HRH4_chr18_24455637_24484961 | 24470501 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG01433.hp2 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0048 others(21): Show |
27 | 101 | 0.2673 | 9 | c.357 others(26): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HR_chr8_22109419_22136010 | 22113648 | A | AATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01109.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0043others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0007g0086 others(7): Show |
12 | 119 | 0.1008 | 9 | c.*20 others(20): Show |
HR | ENSG00000168453.16 | transcript | ENST00000381418.9 | protein_coding | 770 | chr8 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86934927 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01167.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 others(7): Show |
10 | 64 | 0.1563 | 9 | c.124 others(28): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00738.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0001t0001g0114 others(16): Show |
19 | 101 | 0.1881 | 9 | c.124 others(28): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22864882 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG01884.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0192 others(33): Show |
36 | 203 | 0.1773 | 9 | c.485 others(28): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |